Canonical Allele Identifier: CA615946844

Gene: CALM1

Linked Data

• ClinVar Variation Id: 518155
• ClinVar RCV Id: RCV000604632
• dbSNP Id: rs755923535
• gnomAD v2: 14-90866458-G-T
• gnomAD v4: 14-90400114-G-T
• MyVariant Identifiers: chr14:g.90866458G>T (hg19) ; chr14:g.90400114G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.90400114G>T , CM000676.2:g.90400114G>T	GRCh38
NC_000014.8:g.90866458G>T , CM000676.1:g.90866458G>T	GRCh37
NC_000014.7:g.89936211G>T	NCBI36
NG_013338.1:g.8132G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356978.9:c.34+19G>T MANE Select	ENSP00000349467.4:n.34+19G>T
ENST00000447653.8:c.-75+19G>T	ENSP00000403491.4:n.-75+19G>T
ENST00000659177.1:c.-75+19G>T	ENSP00000499421.1:n.-75+19G>T
ENST00000663135.1:c.-75+19G>T	ENSP00000499498.1:n.-75+19G>T
ENST00000356978.8:c.34+19G>T	ENSP00000349467.4:n.34+19G>T
ENST00000447653.7:c.37+19G>T	ENSP00000403491.3:n.37+19G>T
ENST00000544280.6:c.-75+19G>T	ENSP00000442853.2:n.-75+19G>T
ENST00000553542.5:c.-75+19G>T	ENSP00000450829.1:n.-75+19G>T
ENST00000553630.1:c.34+19G>T	ENSP00000451646.1:n.34+19G>T
ENST00000553964.5:n.2164+19G>T
ENST00000553995.5:n.233+19G>T
ENST00000555267.1:n.118+19G>T
ENST00000556757.5:n.233+19G>T
ENST00000557020.5:c.-75+19G>T	ENSP00000451062.1:n.-75+19G>T
ENST00000557123.5:n.252G>T
ENST00000626705.2:c.34+19G>T	ENSP00000486402.1:n.34+19G>T
NM_006888.4:c.34+19G>T	NP_008819.1:n.34+19G>T
XM_006720258.2:c.37+19G>T	XP_006720321.1:n.37+19G>T
NM_001363669.1:c.-75+19G>T	NP_001350598.1:n.-75+19G>T
NM_001363670.1:c.37+19G>T	NP_001350599.1:n.37+19G>T
NM_006888.5:c.34+19G>T	NP_008819.1:n.34+19G>T
NM_006888.6:c.34+19G>T MANE Select	NP_008819.1:n.34+19G>T
NM_001363669.2:c.-75+19G>T	NP_001350598.1:n.-75+19G>T
NM_001363670.2:c.37+19G>T	NP_001350599.1:n.37+19G>T